Author:
Dörre K.,Olczak M.,Wada Y.,Sosicka P.,Grüneberg M.,Reunert J.,Kurlemann G.,Fiedler B.,Biskup S.,Hörtnagel K.,Rust S.,Marquardt T.
Subject
Genetics (clinical),Genetics
Reference30 articles.
1. Biffi S, Tamaro G, Bortot B, Zamberlan S, Severini GM, Carrozzi M (2007) Carbohydrate deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). Clin Biochem 40:1431–1434
2. Biskup S (2010) Molekualrgenetische und zytogenetische Diagnostik. Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik. Next-generation sequencing in genetic diagnostics. J Lab Med 34(6):305–309
3. Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C (1993) Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341(8850):956
4. Ferrari MC, Parini R, Di Rocco MD, Radetti G, Beck-Peccoz P, Persani L (2001) Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation. Eur J Endocrinol 144(4):409–416
5. Freeze HH (2013) Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem 288(10):6936–6945
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